title: [Analysis of a hereditary protein C deficient consanguineous pedigree caused by Phe139Val homozygous mutation].
abstract: OBJECTIVE
  To analyze genetic mutation and explore its molecular pathogenesis for an hereditary protein C (PC) deficient consanguineous pedigree.
  
  
  METHODS
  The pedigree included three generations and contained eight members. PC activity (PC:A), PC antigen (PC:Ag) and other coagulant parameters were detected for all family members. Protein C gene (PROC) include all the exons and intron exon boundaries were amplified by PCR for the proband, then analyzed by direct sequencing. Mutation sites were detected for the other family members.
  
  
  RESULTS
  The PC:A and PC:Ag in the proband plasma were 20% (normal range 70% -140%) and 13.2% (normal range 70%-130%). A homozygous missense mutation g.6128T>G in exon 7 resulting in Phe139Val was identified in the proband. The PC:A and PC:Ag in her younger brother were 31% and 18.90%, Phe139Val homozygous was also found. The left family members were heterozygous for Phe139Val.
  
  
  CONCLUSIONS
  Phe139Val homozygous missense mutation in exon 7 of PROC caused serious hereditary protein C deficiency. We speculated that homozygous mutation might be resulted from this consanguineous marriage.
authors.affiliation: Diagnosis Center of Clinical Laboratory, The First Hospital Affiliated to Wenzhou Medical University, Wenzhou 325000, China.
authors.forename: Li-hong
authors.initials: LH
authors.lastname: Yang
authors.forename: Li-qing
authors.initials: LQ
authors.lastname: Zhu
authors.forename: Ying-yu
authors.initials: YY
authors.lastname: Wang
authors.forename: Hai-xiao
authors.initials: HX
authors.lastname: Xie
authors.forename: Yao-sheng
authors.initials: YS
authors.lastname: Xie
authors.forename: Yan-hui
authors.initials: YH
authors.lastname: Jin
authors.forename: Ming-shan
authors.initials: MS
authors.lastname: Wang
authors.forename: Bi-cheng
authors.initials: BC
authors.lastname: Chen
authors.forename: Xiao-li
authors.initials: XL
authors.lastname: Yang
mesh_terms: D000328:Adult; D000368:Aged; D003241:Consanguinity; D005260:Female; D006720:Homozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D011486:Protein C / Q000235:genetics*; D020151:Protein C Deficiency / Q000209:etiology / Q000235:genetics*
chemical_list: D011486:Protein C